Charge Syndrome

2018 ◽  
Author(s):  
Pilar Mercado ◽  
Jamey E. Eklund ◽  
Jennifer L. Anderson
Keyword(s):  
Cranial Nerve ◽  
De Novo ◽  
Heart Defects ◽  
Choanal Atresia ◽  
Semicircular Canals ◽  
Charge Syndrome ◽  
Chromosome 8 ◽  
De Novo Mutation ◽  
Diagnostic Features ◽  
Equal Distribution

The major diagnostic features of CHARGE syndrome include coloboma of the eyes, choanal atresia or stenosis, distinctive external ears, cranial nerve abnormalities, and absent or small semicircular canals. The mnemonic refers to coloboma of the eye, heart defects, atresia of choanae, retardation of growth and development, cenitalia hypoplasia, and ear abnormalities and deafness. There is no defined etiology, though a de novo mutation on the CHD 7 gene located on Chromosome 8 is responsible for more than 50% of CHARGE cases. The incidence of CHARGE is about 1:10,000 live births with an equal distribution between males and females. The anesthetic implications of this syndrome are many and vary with the patient’s phenotype. A potential difficult airway, congenital heart defects, choanal atresia, and cranial nerve abnormalities present the most significant issues for the anesthesiologist. A multidisciplinary team must be established early to properly care for these complex patients.

scholarly journals Prenatal Sonographic Features of CHARGE Syndrome

Diagnostics ◽  
2021 ◽  
Vol 11 (3) ◽  
pp. 415
Author(s):  
Kuntharee Traisrisilp ◽  
Wisit Chankhunaphas ◽  
Rekwan Sittiwangkul ◽  
Chureerat Phokaew ◽  
Vorasuk Shotelersuk ◽  
...  
Keyword(s):  
De Novo ◽  
Heart Defects ◽  
Molecular Genetic ◽  
Choanal Atresia ◽  
Charge Syndrome ◽  
Acoustic Stimulation ◽  
Genetic Mutation ◽  
Suspected Case ◽  
Autosomal Dominant Disorder ◽  
Canal Stenosis

CHARGE syndrome is a rare autosomal dominant disorder, associated with coloboma (C), heart defects (H), choanal atresia (A), retardation of growth and/or central nervous system (R), genitourinary anomalies (G) and ear abnormalities (E). Prenatal diagnosis of the syndrome is very rare but may be suspected when a combination of such abnormalities is identified. We describe a prenatally suspected case of CHARGE syndrome due to unique findings of cardiac defects (DORV) in combination with minor clues, including a structurally malformed ear with persistent non-response to an acoustic stimulation (which has never been prenatally described elsewhere), renal malrotation and growth restriction. Postnatal diagnosis was made based on confirmation of the prenatal findings and additional specific findings of bilateral coloboma, choanal atresia and ear canal stenosis. Finally, molecular genetic testing by whole exome sequencing of the neonate and her parents revealed a novel de novo heterozygous frameshift c.3506_3509dup variant in the CHD7 gene, confirming the clinical diagnosis of CHARGE syndrome. In conclusion, we describe unique prenatal features of CHARGE syndrome. Educationally, this is one of the rare examples of CHARGE syndrome, comprising all of the six specific anomalies as originally described; it is also supported by the identification of a specific genetic mutation. The identified genetic variant has never been previously reported, thereby expanding the mutational spectrum of CHD7. Finally, this case can inspire prenatal sonographers to increase awareness of subtle or minor abnormalities as genetic sonomarkers.

scholarly journals De Novo Duplication in the CHD7 Gene Associated With Severe CHARGE Syndrome

2019 ◽  
Vol 12 ◽  
pp. 117863101983901 ◽  
Author(s):  
Laura Pranckėnienė ◽  
Eglė Preikšaitienė ◽  
Lucie Gueneau ◽  
Alexandre Reymond ◽  
Vaidutis Kučinskas
Keyword(s):  
Umbilical Hernia ◽  
Developmental Disorder ◽  
Autosomal Dominant ◽  
De Novo ◽  
Choanal Atresia ◽  
Sensory System ◽  
Charge Syndrome ◽  
Linea Alba ◽  
Congenital Hernia ◽  
Chd7 Gene

CHARGE syndrome is an autosomal dominant developmental disorder associated with a constellation of traits involving almost every organ and sensory system, in particular congenital anomalies, including choanal atresia and malformations of the heart, inner ear, and retina. Variants in CHD7 have been shown to cause CHARGE syndrome. Here, we report the identification of a novel de novo p.Asp2119_Pro2120ins6 duplication variant in a conserved region of CHD7 in a severely affected boy presenting with 3 and 5 of the CHARGE cardinal major and minor signs, respectively, combined with congenital umbilical hernia, congenital hernia at the linea alba, mildly hypoplastic inferior vermis, slight dilatation of the lateral ventricles, prominent metopic ridge, and hypoglycemic episodes.

scholarly journals Obstructive Sleep Apnea in a Patient with CHARGE Syndrome

2012 ◽  
Vol 2012 ◽  
pp. 1-3 ◽  
Author(s):  
Carrie-Lee Trider ◽  
Kim Blake
Keyword(s):  
Obstructive Sleep Apnea ◽  
Sleep Apnea ◽  
Cranial Nerve ◽  
Genetic Disorder ◽  
Treatment Options ◽  
Choanal Atresia ◽  
Charge Syndrome ◽  
Physical Symptoms ◽  
Obstructive Sleep

CHARGE syndrome is a genetic disorder characterized by choanal atresia, coloboma of the eye, and ear and cranial nerve abnormalities. We report a child with CHARGE syndrome and obstructive sleep apnea. We highlight difficulties in discerning obstructive sleep apnea-related symptoms from typical features of CHARGE syndrome. Treatment options are discussed with regard to our patient. Tonsillectomy and adenoidectomy improved physical symptoms of obstructive sleep apnea in the patient.

scholarly journals A Rare Case of Vascular Ring and Coarctation of the Aorta in Association with CHARGE Syndrome

2017 ◽  
Vol 44 (2) ◽  
pp. 138-140
Author(s):  
Jonathan B. Wagner ◽  
Joshua Q. Knowlton ◽  
Peter Pastuszko ◽  
Sanket S. Shah
Keyword(s):  
Aortic Arch ◽  
Rare Case ◽  
Heart Defects ◽  
Genetic Disorder ◽  
Vascular Ring ◽  
Choanal Atresia ◽  
Coarctation Of The Aorta ◽  
Charge Syndrome ◽  
Rare Type ◽  
Aortic Arch Anomaly

A male neonate presented with CHARGE syndrome, a multiorgan genetic disorder involving the Coloboma of the eyes, congenital Heart defects, nasal choanal Atresia, growth and development Retardation, Genitourinary disorders, and Ear anomalies and deafness. Moreover, he had a rare case of vascular ring—consisting of a right aortic arch with retroesophageal brachiocephalic artery—combined with coarctation of the mid-aortic arch. He underwent both vascular ring and aortic arch repair at our institution. To our knowledge, this is the 4th documented case of this exceedingly rare type of aortic arch anomaly combined with aortic arch obstruction. Moreover, it is the first confirmed case of these combined disorders occurring in CHARGE syndrome. This report describes a truly rare case and reveals the limitations of echocardiography in detecting complex aortic arch anomalies while illustrating the benefits of advanced imaging prior to surgical intervention.

scholarly journals Three Novel Mutations of CHD7 Gene in Two Turkish Patients with Charge Syndrome; A Double Point Mutation and an Insertion

2015 ◽  
Vol 18 (1) ◽  
pp. 65-70
Author(s):  
Ozlem Giray Bozkaya ◽  
E. Ataman ◽  
C. Randa ◽  
D. Onur Cura ◽  
S. Gürsoy ◽  
...  
Keyword(s):  
Genetic Disease ◽  
Double Point ◽  
Heart Defects ◽  
Choanal Atresia ◽  
Charge Syndrome ◽  
Dna Binding Protein ◽  
The Other ◽  
Novel Mutations ◽  
Chd7 Gene ◽  
Turkish Patients

Abstract The CHARGE (coloboma, heart defects, atresia, retardation, genital, ear) syndrome is a genetic disease characterized by ocular coloboma, choanal atresia or stenosis and semicircular canal abnormalities. Most of the patients clinically diagnosed with CHARGE syndrome have mutations in chromodomain helicase DNA-binding protein 7 (CHD7) gene. The CHD7 gene is located on chromosome 8q12.1, and up to now, there are more than 500 pathogenic mutations identified in the literature. We report two patients diagnosed with CHARGE syndrome with two novel mutations in the CHD7 gene: the first patient has double consecutive novel mutations in three adjacent codons, and the other has a novel insertion.

Skull Base Anatomy in Patients with Bilateral Choanal Atresia: A Radiographic Study

2021 ◽  
Author(s):  
Christopher Pool ◽  
Einat Slonimsky ◽  
Roshan Nayak ◽  
Lisa Engle ◽  
Junjia Zhu ◽  
...  
Keyword(s):  
Congenital Anomaly ◽  
Skull Base ◽  
Congenital Anomalies ◽  
Heart Defects ◽  
Choanal Atresia ◽  
Retrospective Chart Review ◽  
Charge Syndrome ◽  
The Face ◽  
Skull Base Anatomy ◽  
Skull Base Defects

Abstract Background The risk of skull base injury during choanal atresia repair can be mitigated via thorough understanding of skull base anatomy. There is a paucity of data describing differences in skull base anatomy between patients with coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear abnormalities (CHARGE) syndrome and those without. Objectives The aim of this study was to measure nasal and skull base anatomy in patients with isolated bilateral choanal atresia (BCA), CHARGE syndrome, and other syndromic congenital anomalies. Methods Retrospective chart review of patients with bilateral choanal atresia and computed tomography of the face between 2001 and 2019 were evaluated. Choanal width, height, mid-nasal height, and skull base slope were measured radiographically. Differences in anatomy between healthy patients, those with CHARGE syndrome, and those with other congenital anomalies were compared. Results Twenty-one patients with BCA and relevant imaging were identified: 7 with isolated BCA, 6 with CHARGE syndrome, and 8 with other congenital anomalies. A t-test indicated insignificant difference in skull base slope, choanal height, choanal width, or mid-nasal skull base height between isolate BCA cases and patients with any congenital anomaly. When comparing CHARGE to isolated BCA cases, mid-nasal height was shorter in CHARGE patients (p = 0.03). There were no differences in measurements between patients with congenital anomalies excluding CHARGE (p > 0.05). Two patients in the congenital anomaly group were found to have bony skull base defects preoperatively. Conclusion This study represents the largest description of skull base and nasal anatomy in patients with CHARGE syndrome and BCA. Surgeons should be aware of the lower skull base in CHARGE patients to avoid inadvertent skull base injury.

Cleft Lip and Palate in CHARGE Syndrome

2017 ◽  
Vol 55 (3) ◽  
pp. 342-347 ◽  
Author(s):  
Kathryn V. Isaac ◽  
Ingrid M. Ganske ◽  
Stephen A. Rottgers ◽  
So Young Lim ◽  
John B. Mulliken
Keyword(s):  
Hearing Loss ◽  
Cleft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Choanal Atresia ◽  
Semicircular Canals ◽  
Charge Syndrome ◽  
Velopharyngeal Insufficiency ◽  
Feeding Difficulties ◽  
Dentofacial Orthopedics

Objective: Infants with syndromic cleft lip and/or cleft palate (CL/P) often require more complex care than their nonsyndromic counterparts. Our purpose was to (1) determine the prevalence of CL/P in patients with CHARGE syndrome and (2) highlight factors that affect management in this subset of children. Design: This is a retrospective review from 1998 to 2016. Patients: Patients with CHARGE syndrome were diagnosed clinically and genetically. Main Outcomes Measures: Prevalence of CL/P was determined and clinical details tabulated: phenotypic anomalies, cleft types, operative treatment, and results of repair. Results: CHARGE syndrome was confirmed in 44 patients: 11 (25%) had cleft lip and palate and 1 had cleft palate only. Surgical treatment followed our usual protocols. Two patients with cardiac anomalies had prolonged recovery following surgical correction, necessitating palatal closure prior to nasolabial repair. One of these patients was too old for dentofacial orthopedics and underwent combined premaxillary setback and palatoplasty, prior to labial closure. Velopharyngeal insufficiency was frequent (n = 3/7). All patients had feeding difficulty and required a gastrostomy tube. All patients had neurosensory hearing loss; anomalies of the semicircular canals were frequent (n = 3/4). External auricular anomalies, colobomas, and cardiovascular anomalies were also common (n = 8/11). Other associated anomalies were choanal atresia (n = 4/11) and tracheoesophageal fistula (n = 2/11). Conclusions: CHARGE syndrome is an under-recognized genetic cause of cleft lip and palate. Hearing loss and speech and feeding difficulties often occur in these infants. Diagnosis can be delayed if the child presents with covert phenotypic features, such as chorioretinal colobomas, semicircular canal hypoplasia, and unilateral choanal atresia.

scholarly journals Hearing assessment in a rare case of Hajdu Cheney syndrome

2017 ◽  
Vol 3 (4) ◽  
pp. 1140
Author(s):  
Priyanka . ◽  
Shiffali . ◽  
Manpreet Singh ◽  
Jagdeepak Singh
Keyword(s):  
Hearing Loss ◽  
De Novo ◽  
Bone Fractures ◽  
Heart Defects ◽  
Joint Hypermobility ◽  
De Novo Mutation ◽  
Body Hair ◽  
Hearing Assessment ◽  
Characteristic Features ◽  
Hands And Feet

<p class="abstract"><span lang="EN-IN">Hajdu Cheney syndrome is extremely rare autosomal dominant congenital disorder of connective tissue. It may occur due to spontaneous de novo mutation and mutation in NOTCH-2 gene identified recently. Most characteristic features include aero-osteolysis involving phalanges of both hands and feet, osteoporosis, deformities of skull, mandible, spine and other bones, kyphoscoliosis and bone fractures. Rarely in some affected individuals, it causes joint hypermobility, dental problems, hearing loss, heart defects, kidney abnormality like polycystic kidneys, excess body hair and recurrent infections in childhood. It affects many parts of body particularly bones. Treatment is symptomatic. In this case report, we present a case of 14 years male child with features of Hajdu Cheney syndrome with genetic predisposition. Patient presented to ENT clinic with complaint of hearing loss.</span></p>

scholarly journals Intranasal oxytocin administration ameliorates social behavioral deficits in a POGZWT/Q1038R mouse model of autism spectrum disorder

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Kohei Kitagawa ◽  
Kensuke Matsumura ◽  
Masayuki Baba ◽  
Momoka Kondo ◽  
Tomoya Takemoto ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Social Behavior ◽  
Mouse Model ◽  
Mouse Models ◽  
De Novo ◽  
Neurodevelopmental Disorder ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
De Novo Mutation ◽  
Behavioral Deficits

AbstractAutism spectrum disorder (ASD) is a highly prevalent neurodevelopmental disorder characterized by core symptoms of impaired social behavior and communication. Recent studies have suggested that the oxytocin system, which regulates social behavior in mammals, is potentially involved in ASD. Mouse models of ASD provide a useful system for understanding the associations between an impaired oxytocin system and social behavior deficits. However, limited studies have shown the involvement of the oxytocin system in the behavioral phenotypes in mouse models of ASD. We have previously demonstrated that a mouse model that carries the ASD patient-derived de novo mutation in the pogo transposable element derived with zinc finger domain (POGZWT/Q1038R mice), showed ASD-like social behavioral deficits. Here, we have explored whether oxytocin (OXT) administration improves impaired social behavior in POGZWT/Q1038R mice and found that intranasal oxytocin administration effectively restored the impaired social behavior in POGZWT/Q1038R mice. We also found that the expression level of the oxytocin receptor gene (OXTR) was low in POGZWT/Q1038R mice. However, we did not detect significant changes in the number of OXT-expressing neurons between the paraventricular nucleus of POGZWT/Q1038R mice and that of WT mice. A chromatin immunoprecipitation assay revealed that POGZ binds to the promoter region of OXTR and is involved in the transcriptional regulation of OXTR. In summary, our study demonstrate that the pathogenic mutation in the POGZ, a high-confidence ASD gene, impairs the oxytocin system and social behavior in mice, providing insights into the development of oxytocin-based therapeutics for ASD.

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